OPHN1

Oligophrenin 1
Identifiers
Symbols	OPHN1 ; MRX60; OPN1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1913
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Oligophrenin 1, also known as OPHN1, is a human gene.

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation.

Further reading

• Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835.
• Ramakers GJ (2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends Neurosci. 25 (4): 191–9. PMID 11998687.
• Bergmann C, Zerres K, Senderek J; et al. (2003). "Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia". Brain. 126 (Pt 7): 1537–44. doi:10.1093/brain/awg173. PMID 12805098.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bienvenu T, Der-Sarkissian H, Billuart P; et al. (1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". Eur. J. Hum. Genet. 5 (2): 105–9. PMID 9195162.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Billuart P, Bienvenu T, Ronce N; et al. (1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tentler D, Gustavsson P, Leisti J; et al. (1999). "Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia". Eur. J. Hum. Genet. 7 (5): 541–8. doi:10.1038/sj.ejhg.5200320. PMID 10439959.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Billuart P, Chelly J, Carrié A; et al. (2000). "Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation". Ann. Genet. 43 (1): 5–9. PMID 10818214.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pinheiro NA, Caballero OL, Soares F; et al. (2001). "Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis". Cancer Lett. 172 (1): 67–73. PMID 11595131.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.CS1 maint: Multiple names: authors list (link)
• Philip N, Chabrol B, Lossi AM; et al. (2003). "Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia". J. Med. Genet. 40 (6): 441–6. PMID 12807966.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xiao J, Neylon CB, Nicholson GA, Furness JB (2004). "Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin". Neuroscience. 124 (4): 781–7. doi:10.1016/j.neuroscience.2004.01.007. PMID 15026118.CS1 maint: Multiple names: authors list (link)
• Ross MT, Grafham DV, Coffey AJ; et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zanni G, Saillour Y, Nagara M; et al. (2006). "Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia". Neurology. 65 (9): 1364–9. doi:10.1212/01.wnl.0000182813.94713.ee. PMID 16221952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)